Cryptorchidism, and Hyperreflexia

Diseases related with Cryptorchidism and Hyperreflexia

In the following list you will find some of the most common rare diseases related to Cryptorchidism and Hyperreflexia that can help you solving undiagnosed cases.

Top matches:

IECEE3 is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and intellectual disability. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3

Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cataract
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.

PONTOCEREBELLAR HYPOPLASIA TYPE 10 Is also known as pch10|clp1-related pontocerebellar hypoplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 10

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

Medium match DPAGT1-CDG

DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

DPAGT1-CDG Is also known as cdg syndrome type ij|cdg-ij|congenital disorder of glycosylation type 1j|cdgij|cdg1j|carbohydrate deficient glycoprotein syndrome type ij|cdg ij|dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation ty

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPAGT1-CDG

Top 5 symptoms//phenotypes associated to Cryptorchidism and Hyperreflexia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Cryptorchidism and Hyperreflexia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Spasticity

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly Hypertonia Cerebral atrophy Wide nasal bridge Muscular hypotonia Optic atrophy Abnormal facial shape Thin upper lip vermilion High palate Abnormality of the cerebral white matter Cerebellar hypoplasia Micropenis Progressive microcephaly Agenesis of corpus callosum Micrognathia Hypoplasia of the corpus callosum Absent speech Encephalopathy

Rare Symptoms - Less than 30% cases

High forehead Coarse facial features Spastic paraplegia Apnea Anemia Delayed speech and language development Prominent forehead Visual impairment Motor delay Wide mouth Feeding difficulties Infantile spasms Aggressive behavior Neurodegeneration Ambiguous genitalia Cerebral cortical atrophy Muscular hypotonia of the trunk Irritability Gliosis Myoclonus Delayed myelination Dystonia Epicanthus Esotropia Flexion contracture Edema Intellectual disability, severe Congenital cataract Poor eye contact Cerebral calcification Hypsarrhythmia Epileptic encephalopathy Cataract Postnatal microcephaly Hypertelorism Hydrocephalus Delayed ability to walk Hypermetropia Long face Inguinal hernia Exotropia Single transverse palmar crease Poor speech Dementia Low-set ears Ventricular septal defect Long philtrum Diarrhea Gait ataxia Patent ductus arteriosus Hyperactivity Respiratory failure Feeding difficulties in infancy Prominent nasal bridge Severe global developmental delay Type I transferrin isoform profile Abnormality of the basal ganglia Protruding ear Pointed chin Thick vermilion border Prominent nose Dandy-Walker malformation Deeply set eye Choreoathetosis Narrow face Hypoproteinemia Mandibular prognathia Self-injurious behavior Difficulty walking Skin dimples Basal ganglia calcification Inverted nipples High-frequency hearing impairment Finger clinodactyly Aplasia/Hypoplasia of the cerebellum Hypoplasia of the pons Malabsorption Nevus Muscle weakness Tremor Hypogonadism Olivopontocerebellar hypoplasia Microphallus Upslanted palpebral fissure Macrotia Chorea Fasciculations Temperature instability Hypergonadotropic hypogonadism Oculomotor apraxia Prominent supraorbital ridges Clitoral hypertrophy Hypoplasia of the brainstem Flat occiput Sex reversal Nevus flammeus Type I lissencephaly Respiratory insufficiency Pulmonary hypoplasia Pachygyria Elevated hepatic transaminase Thick upper lip vermilion Decreased testicular size Jaundice Specific learning disability Clinodactyly of the 5th finger Hypoplasia of penis Clinodactyly Aganglionic megacolon Abnormality of temperature regulation Chronic diarrhea Hypohidrosis Wide anterior fontanel Lissencephaly Exocrine pancreatic insufficiency Profound global developmental delay Hydranencephaly Long upper lip Duane anomaly Depressed nasal bridge Blindness Macrocephaly Flexion contracture of thumb Adducted thumb Bilateral cryptorchidism Hemiplegia/hemiparesis Absent septum pellucidum Aqueductal stenosis Visceromegaly Oxycephaly Esodeviation Myopia Holoprosencephaly Downslanted palpebral fissures Behavioral abnormality Autism Autistic behavior Abnormal cardiac septum morphology Generalized tonic-clonic seizures Synophrys Astigmatism Downturned corners of mouth Increased intracranial pressure Small hand Generalized myoclonic seizures Hepatomegaly Cerebellar atrophy Coloboma Iris coloboma Inability to walk Febrile seizures Tetraparesis Spastic tetraparesis CNS hypomyelination Dilatation Joint stiffness Polydactyly Abnormality of the kidney Progressive neurologic deterioration Ectopic kidney Cystic renal dysplasia Short neck Hyporeflexia Babinski sign Retrognathia Neutropenia Status epilepticus Sensorineural hearing impairment Spastic tetraplegia Developmental regression Lethargy Dysmetria Metabolic acidosis Tetraplegia Increased serum lactate Aciduria Tetralogy of Fallot Abnormal vertebral morphology Vomiting Truncal ataxia Aminoaciduria Abnormality of the vertebral column Progressive encephalopathy Titubation Acute encephalopathy Decreased activity of the pyruvate dehydrogenase complex Encephalomalacia Scoliosis Acidosis Ataxia Broad-based gait Underdeveloped nasal alae Cerebral visual impairment Obsessive-compulsive behavior Enlarged cisterna magna Growth delay Peripheral neuropathy Short nose Proptosis Highly arched eyebrow Brain atrophy Long eyelashes Visual fixation instability Sensorimotor neuropathy Delayed gross motor development Poor head control Cortical gyral simplification Progressive spasticity Long palpebral fissure Abnormality of brainstem morphology Delayed fine motor development Abnormality of the cerebral cortex Reduced antithrombin III activity


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